Variant report

Variant	esv1797111
Chromosome Location	chr13:91983910-92001472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:91999518-92000073	HepG2	liver:	n/a	chr13:91999839-91999851 chr13:91999797-91999809 chr13:91999677-91999689
2	ARID3A	chr13:92000636-92005036	K562	blood:	n/a	n/a
3	ARID3A	chr13:91998579-92000364	K562	blood:	n/a	chr13:91999839-91999851 chr13:91999797-91999809 chr13:91999677-91999689
4	ARID3A	chr13:92001068-92001460	HepG2	liver:	n/a	n/a
5	ATF2	chr13:92001223-92001727	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr13:92000628-92001774	GM12878	blood:	n/a	n/a
7	ATF2	chr13:91999029-91999593	GM12878	blood:	n/a	n/a
8	ATF2	chr13:92001164-92001738	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr13:92001229-92001770	GM12878	blood:	n/a	n/a
10	ATF3	chr13:92000429-92001663	K562	blood:	n/a	chr13:92001040-92001049 chr13:92000879-92000888 chr13:92000818-92000827
11	ATF3	chr13:92000635-92002101	K562	blood:	n/a	chr13:92001040-92001049 chr13:92000879-92000888 chr13:92000818-92000827
12	ATF3	chr13:91999403-92000393	K562	blood:	n/a	chr13:91999622-91999631
13	BACH1	chr13:91998969-92000215	K562	blood:	n/a	n/a
14	BACH1	chr13:92000500-92004941	K562	blood:	n/a	n/a
15	BACH1	chr13:92000597-92001724	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr13:91999126-91999955	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr13:92001187-92001475	GM12878	blood:	n/a	n/a
18	BATF	chr13:91998361-91998681	GM12878	blood:	n/a	n/a
19	BCL11A	chr13:92001182-92001476	GM12878	blood:	n/a	chr13:92001320-92001333 chr13:92001319-92001328
20	BCL3	chr13:91999499-92000289	GM12878	blood:	n/a	chr13:91999970-91999979 chr13:91999772-91999785 chr13:91999759-91999772 chr13:91999967-91999976 chr13:91999968-91999981 chr13:91999967-91999980 chr13:92000044-92000057 chr13:91999923-91999936
21	BCL3	chr13:92000688-92001548	GM12878	blood:	n/a	chr13:92001154-92001163 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92001475-92001484 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328
22	BCL3	chr13:92000412-92001997	K562	blood:	n/a	chr13:92001154-92001163 chr13:92000668-92000681 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92000666-92000675 chr13:92001475-92001484 chr13:92000669-92000678 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328 chr13:92000667-92000680 chr13:92000672-92000681
23	BCL3	chr13:92001159-92001639	A549	lung:	n/a	chr13:92001475-92001484 chr13:92001320-92001333 chr13:92001319-92001328
24	BCL3	chr13:92000752-92001703	K562	blood:	n/a	chr13:92001154-92001163 chr13:92001475-92001484 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328
25	BCLAF1	chr13:92000625-92001963	GM12878	blood:	n/a	chr13:92001154-92001163 chr13:92000668-92000681 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92000666-92000675 chr13:92001475-92001484 chr13:92000669-92000678 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328 chr13:92000667-92000680 chr13:92000672-92000681
26	BCLAF1	chr13:91998964-92000058	GM12878	blood:	n/a	chr13:91999970-91999979 chr13:91999772-91999785 chr13:91999759-91999772 chr13:91999967-91999976 chr13:91999968-91999981 chr13:91999967-91999980 chr13:92000044-92000057 chr13:91999923-91999936
27	BCLAF1	chr13:91999006-91999781	GM12878	blood:	n/a	chr13:91999759-91999772
28	BCLAF1	chr13:92000584-92001657	GM12878	blood:	n/a	chr13:92001154-92001163 chr13:92000668-92000681 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92000666-92000675 chr13:92001475-92001484 chr13:92000669-92000678 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328 chr13:92000667-92000680 chr13:92000672-92000681
29	BCLAF1	chr13:91998654-92000393	K562	blood:	n/a	chr13:91999970-91999979 chr13:91999772-91999785 chr13:91999759-91999772 chr13:91999967-91999976 chr13:91999968-91999981 chr13:91999967-91999980 chr13:92000044-92000057 chr13:91999923-91999936
30	BCLAF1	chr13:92000442-92002774	K562	blood:	n/a	chr13:92001154-92001163 chr13:92000668-92000681 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92000666-92000675 chr13:92001475-92001484 chr13:92000669-92000678 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328 chr13:92000667-92000680 chr13:92000672-92000681
31	BHLHE40	chr13:91999068-92000134	GM12878	blood:	n/a	chr13:91999964-91999980 chr13:91999763-91999779 chr13:91999766-91999782
32	BHLHE40	chr13:92000754-92001720	HepG2	liver:	n/a	n/a
33	BHLHE40	chr13:91999474-91999928	HepG2	liver:	n/a	chr13:91999763-91999779 chr13:91999766-91999782
34	BHLHE40	chr13:92000613-92001666	GM12878	blood:	n/a	chr13:92000668-92000684
35	BHLHE40	chr13:91998873-92004913	K562	blood:	n/a	chr13:91999964-91999980 chr13:92000668-92000684 chr13:91999763-91999779 chr13:91999766-91999782
36	BRCA1	chr13:91999795-91999997	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr13:92001183-92001426	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr13:91999954-91999999	HepG2	liver:	n/a	n/a
39	BRCA1	chr13:92001396-92001596	GM12878	blood:	n/a	n/a
40	BRCA1	chr13:92000106-92000185	GM12878	blood:	n/a	n/a
41	BRCA1	chr13:91999757-91999760	GM12878	blood:	n/a	n/a
42	CBX3	chr13:92000620-92002019	K562	blood:	n/a	chr13:92001776-92001787
43	CBX3	chr13:91998805-92000374	K562	blood:	n/a	n/a
44	CBX3	chr13:91998800-92000165	K562	blood:	n/a	n/a
45	CBX3	chr13:92001182-92004862	K562	blood:	n/a	chr13:92001776-92001787 chr13:92003539-92003550
46	CCNT2	chr13:91999216-92001980	K562	blood:	n/a	chr13:92000025-92000034 chr13:92001155-92001164 chr13:92001601-92001610 chr13:92001181-92001190
47	CCNT2	chr13:91997000-91997201	K562	blood:	n/a	n/a
48	CEBPB	chr13:92001236-92001464	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr13:92001181-92002084	GM12878	blood:	n/a	n/a
50	CEBPB	chr13:91998543-91999640	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:91999555-91999605	ECC-1	luminal epithelium:	n/a
2	chr13:91999555-91999605	ECC-1	luminal epithelium:	n/a
3	chr13:92000225-92000275	AG10803	skin:	n/a
4	chr13:92000673-92000723	GM06990	blood:	n/a
5	chr13:92001440-92001490	T-47D	breast:	n/a
6	chr13:91999862-91999912	HRCEpiC	kidney:	n/a
7	chr13:91999862-91999912	HEEpiC	esophagus:	n/a
8	chr13:91999862-91999912	PFSK-1	brain:	n/a
9	chr13:91999862-91999912	LNCaP	prostate:	n/a
10	chr13:92000667-92000717	SK-N-SH	brain:	n/a
11	chr13:92000667-92000717	SKMC	muscle:	n/a
12	chr13:92000667-92000717	PFSK-1	brain:	n/a
13	chr13:92000113-92000163	GM19239	blood:	n/a
14	chr13:92000113-92000163	HMEC	breast:	n/a
15	chr13:92000113-92000163	HepG2	liver:	n/a
16	chr13:92000667-92000717	HAEpiC	amniotic membrane:	n/a
17	chr13:91999862-91999912	T-47D	breast:	n/a
18	chr13:92000673-92000723	MCF10A-Er-Src	breast:	n/a
19	chr13:92000667-92000717	AG04450	lung:	fetal
20	chr13:92000225-92000275	PFSK-1	brain:	n/a
21	chr13:92000667-92000717	AG10803	skin:	n/a
22	chr13:92000225-92000275	ECC-1	luminal epithelium:	n/a
23	chr13:92000113-92000163	AG10803	skin:	n/a
24	chr13:92000113-92000163	NB4	blood:	n/a
25	chr13:91999862-91999912	AG04450	lung:	fetal
26	chr13:92000667-92000717	Jurkat	blood:	n/a
27	chr13:91999862-91999912	HRPEpiC	eye:	n/a
28	chr13:91999408-91999458	H1-hESC	embryonic stem cell:	embryo
29	chr13:91999408-91999458	AG10803	skin:	n/a
30	chr13:92001440-92001490	BE2_C	brain:	n/a
31	chr13:91999862-91999912	HPAEpiC	pulmonary alveolar:	n/a
32	chr13:91999555-91999605	PrEC	prostate:	n/a
33	chr13:92000225-92000275	HCF	heart:	n/a
34	chr13:92001440-92001490	GM19239	blood:	n/a
35	chr13:92000667-92000717	MCF10A-Er-Src	breast:	n/a
36	chr13:92000225-92000275	U87	brain:	n/a
37	chr13:92000113-92000163	MCF10A-Er-Src	breast:	n/a
38	chr13:91999555-91999605	PANC-1	pancreas:	n/a
39	chr13:92000113-92000163	Hepatocyte	liver:	n/a
40	chr13:91999862-91999912	NH-A	brain:	n/a
41	chr13:92000673-92000723	U87	brain:	n/a
42	chr13:92000667-92000717	Caco-2	colon:	n/a
43	chr13:92000673-92000723	SK-N-SH_RA	brain:	n/a
44	chr13:91999408-91999458	PrEC	prostate:	n/a
45	chr13:92000667-92000717	SAEC	small airway:	n/a
46	chr13:92000667-92000717	AG09309	skin:	n/a
47	chr13:91999408-91999458	GM12891	blood:	n/a
48	chr13:92000225-92000275	HAEpiC	amniotic membrane:	n/a
49	chr13:92000667-92000717	MCF-7	breast:	n/a
50	chr13:92000225-92000275	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:92000043..92002771-chr9:133971829..133974734,2	K562	blood:
2	chr13:91983271..91985793-chr13:91995740..91997781,2	MCF-7	breast:
3	chr13:91998892..92001087-chrX:152952239..152954221,2	K562	blood:
4	chr13:92000785..92001327-chr20:3869642..3870361,2	Hela-S3	cervix:
5	chr1:33004072..33007091-chr13:91999311..92001675,4	K562	blood:
6	chr13:91998254..92001076-chr22:22898499..22901171,2	K562	blood:
7	chr13:92000564..92001131-chr6:31509453..31510104,2	Hela-S3	cervix:
8	chr1:192777682..192778234-chr13:92000781..92001546,2	HCT-116	colon:
9	chr1:33004093..33007091-chr13:91999311..92002195,5	K562	blood:
10	chr13:91995298..91997355-chr13:91999123..92001024,2	MCF-7	breast:
11	chr13:91998997..92001437-chr21:34913809..34915620,2	K562	blood:
12	chr13:91996769..92000031-chr13:92330723..92334670,4	K562	blood:
13	chr13:92000244..92002396-chr3:195806622..195808883,2	K562	blood:
14	chr13:92000384..92001311-chr14:75745218..75745970,2	Hela-S3	cervix:
15	chr13:92000505..92003025-chr22:23522118..23523811,2	K562	blood:
16	chr13:91999824..92001564-chr22:17082538..17085283,2	K562	blood:
17	chr13:45910919..45912639-chr13:91999905..92002237,2	K562	blood:
18	chr13:91922956..91924872-chr13:91999191..92001609,2	K562	blood:
19	chr13:91242211..91243772-chr13:91995826..91998214,2	K562	blood:
20	chr12:49656589..49659420-chr13:91999028..92001178,2	K562	blood:
21	chr13:91979501..91981445-chr13:91981674..91984085,3	K562	blood:
22	chr13:91998556..92002777-chr9:134147037..134155728,18	K562	blood:
23	chr13:92000503..92002491-chr5:137802235..137804530,2	K562	blood:
24	chr1:33815096..33815763-chr13:92000566..92001402,2	Hela-S3	cervix:
25	chr13:91988033..91993590-chr13:91999106..92002529,7	MCF-7	breast:
26	chr13:92001216..92001980-chr16:31191381..31192319,2	Hela-S3	cervix:
27	chr13:91999624..92000352-chr19:40596463..40597085,2	Hela-S3	cervix:
28	chr13:91998254..92002103-chr22:22898499..22902488,4	K562	blood:
29	chr13:91999993..92001632-chr2:85765128..85766944,2	K562	blood:
30	chr13:92001207..92003151-chr15:65588208..65589789,2	K562	blood:
31	chr13:91998776..92000555-chr13:92831916..92834550,2	K562	blood:
32	chr13:91991269..91994138-chr13:91998571..92000146,2	MCF-7	breast:
33	chr13:91899592..91901099-chr13:91998004..91999669,2	K562	blood:
34	chr13:91999380..92000118-chr9:4679003..4679675,2	NB4	blood:
35	chr13:92000031..92002100-chr13:111364097..111366110,2	K562	blood:
36	chr1:194760364..194761866-chr13:92000592..92002297,2	K562	blood:
37	chr13:91974112..91976391-chr13:91980920..91984576,5	K562	blood:
38	chr1:167905256..167905963-chr13:91999310..92000299,2	Hela-S3	cervix:
39	chr13:91999417..92000348-chr16:88922774..88923477,2	NB4	blood:
40	chr13:91998556..92001592-chr9:134150017..134155728,10	K562	blood:
41	chr13:92000736..92001706-chr15:45879106..45879976,2	Hela-S3	cervix:
42	chr13:91999950..92001498-chr6:27113724..27116525,2	K562	blood:
43	chr13:91998294..91999880-chr13:92024685..92027354,2	MCF-7	breast:
44	chr13:91996168..91998142-chr13:92114468..92116785,2	K562	blood:
45	chr13:92000589..92001277-chr19:10491196..10491852,2	NB4	blood:
46	chr13:91996642..91999334-chr13:92113373..92115968,2	K562	blood:
47	chr13:91980883..91984230-chr13:91997795..92000374,3	MCF-7	breast:
48	chr13:91999905..92002821-chr22:19420290..19421943,2	K562	blood:
49	chr13:91999526..92000349-chr19:23432834..23433455,2	NB4	blood:
50	chr13:91998703..91999501-chr2:70314810..70315727,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-1	chr13:92000196-92000213	ENSG00000215417.5
2	lnc-GPC5-1	chr13:92000074-92000213	NR_027349
3	lnc-GPC5-1	chr13:92000074-92000213	ENSG00000215417.5
4	lnc-GPC5-1	chr13:92000074-92000213	NONHSAT034665
5	lnc-GPC5-1	chr13:92000074-92000213	ENSG00000215417

Variant related genes	Relation type
MIR17HG	TF binding region
MIR17HG	CpG island
ENSG00000105397	chromatin interactions
ENSG00000130821	chromatin interactions
ENSG00000104164	chromatin interactions
ENSG00000125779	chromatin interactions
ENSG00000141012	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000159131	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000160062	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000116741	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000214178	chromatin interactions
ENSG00000198563	chromatin interactions
ENSG00000134686	chromatin interactions
ENSG00000179818	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000088451	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000134287	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000273061	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000130822	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000264910	chromatin interactions
ENSG00000164236	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000196081	chromatin interactions
ENSG00000269749	chromatin interactions
ENSG00000100181	chromatin interactions
ENSG00000126882	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000272822	chromatin interactions
ENSG00000130726	chromatin interactions
ENSG00000269296	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000260170	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000106993	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000199477	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000159140	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000197782	chromatin interactions
ENSG00000229287	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000126878	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000162616	chromatin interactions

Extended variants
information (count: 501 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9523304	chr13:91983910-91983911	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139072236	chr13:91983961-91983962	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386773317	chr13:91983986-91983987	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs72640328	chr13:91983988-91983989	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576489935	chr13:91983997-91983998	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142917755	chr13:91984009-91984010	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545586006	chr13:91984011-91984012	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562677644	chr13:91984047-91984048	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531424350	chr13:91984048-91984049	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542045528	chr13:91984076-91984077	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561958338	chr13:91984113-91984114	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546310214	chr13:91984122-91984123	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527623131	chr13:91984145-91984146	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547771776	chr13:91984164-91984165	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562818298	chr13:91984204-91984205	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189223255	chr13:91984234-91984235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs976547	chr13:91984340-91984341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550021764	chr13:91984395-91984396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192852609	chr13:91984396-91984397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575111642	chr13:91988033-91988034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112435803	chr13:91988046-91988047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184379815	chr13:91988075-91988076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142322320	chr13:91988080-91988081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546343278	chr13:91988106-91988107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199882700	chr13:91988128-91988129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs151312848	chr13:91988132-91988133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559308926	chr13:91988133-91988134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532402093	chr13:91988154-91988155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190074434	chr13:91988158-91988159	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569160410	chr13:91988164-91988165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530294328	chr13:91988182-91988183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537834625	chr13:91988193-91988194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528318919	chr13:91988218-91988219	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376839539	chr13:91988231-91988232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551372276	chr13:91988240-91988241	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs78749330	chr13:91988282-91988283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367842697	chr13:91988286-91988287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568562473	chr13:91988313-91988314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565226241	chr13:91988322-91988323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546912768	chr13:91988383-91988384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114319366	chr13:91988434-91988435	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554363076	chr13:91988449-91988450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs140546635	chr13:91988453-91988454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565734404	chr13:91988470-91988471	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540055717	chr13:91988483-91988484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547655655	chr13:91988498-91988499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111316689	chr13:91988500-91988501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576715542	chr13:91988503-91988504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9589202	chr13:91988524-91988525	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9523307	chr13:91988556-91988557	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91983000-91984200	Flanking Active TSS	GM12878-XiMat	blood
2	chr13:91983600-91984200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:91984200-91984400	Enhancers	GM12878-XiMat	blood
4	chr13:91992200-91992600	ZNF genes & repeats	Right Atrium	heart
5	chr13:91993800-91998800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:91994000-91994600	Enhancers	Stomach Mucosa	stomach
7	chr13:91994600-91999200	Weak transcription	Stomach Mucosa	stomach
8	chr13:91995200-91998000	Enhancers	GM12878-XiMat	blood
9	chr13:91996200-91996400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr13:91996600-91997600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr13:91997600-91998600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr13:91997600-91998800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:91997800-91998600	Enhancers	Dnd41	blood
14	chr13:91997800-91998800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr13:91998000-91999600	Flanking Active TSS	GM12878-XiMat	blood
16	chr13:91998400-91998600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:91998400-91998800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:91998400-91999000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:91998400-91999000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr13:91998600-91998800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr13:91998600-91998800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr13:91998600-91999000	Enhancers	Primary hematopoietic stem cells	blood
23	chr13:91998600-91999200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr13:91998600-91999600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr13:91998600-91999600	Flanking Active TSS	Dnd41	blood
26	chr13:91998600-91999800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:91998800-91999000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr13:91998800-91999000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr13:91998800-91999000	Enhancers	Primary T cells from cord blood	blood
30	chr13:91998800-91999000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr13:91998800-91999000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr13:91998800-91999000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:91998800-91999000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr13:91998800-91999000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr13:91998800-91999000	Enhancers	Adipose Nuclei	Adipose
36	chr13:91998800-91999000	Enhancers	Brain Anterior Caudate	brain
37	chr13:91998800-91999000	Enhancers	Brain Cingulate Gyrus	brain
38	chr13:91998800-91999000	Enhancers	Brain Hippocampus Middle	brain
39	chr13:91998800-91999000	Enhancers	Fetal Intestine Large	intestine
40	chr13:91998800-91999000	Enhancers	Fetal Intestine Small	intestine
41	chr13:91998800-91999000	Enhancers	Thymus	Thymus
42	chr13:91998800-91999000	Bivalent Enhancer	HUVEC	blood vessel
43	chr13:91998800-91999200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr13:91998800-91999200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr13:91998800-91999200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr13:91998800-91999200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:91998800-91999200	Active TSS	Primary B cells from cord blood	blood
48	chr13:91998800-91999200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr13:91998800-91999200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr13:91998800-91999200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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